Table 3.
Risk and Protective SNPs and Haplotypes for aHUS and DDD
| Gene | Variant (SNP) | Haplotype | Effect | Disease |
|---|---|---|---|---|
| CFH | −332T (c.−332C>T) | Risk | aHUS | |
| 184G (c.184G>A, p.V62I) | Risk | DDD | ||
| 1204C (c.1204T>C, p.Y402H) | Risk | DDD | ||
| 2016G (c.2016A>G, p.Q672Q) | Risk | aHUS | ||
| 2808T (c.2808G>T, p.E936D) | Risk | aHUS | ||
| H1 (CGCAG) | Risk | DDD | ||
| H2 (CATAG) | Protective | aHUS and DDD | ||
| H3 (TGTGT) | Risk | aHUS | ||
| CFHR1 | 469T (c.469C>T, p.H157Y) 475G (c.475C>G, p.L159V) 523C (c.532G>C, p.E175Q) |
CFHR1*B (TGC) | Risk | aHUS |
| MCP | −652G (c.−652A>G) | Protective | C3GN and IC-MPGN | |
| *897C (c.*897T>C) | Risk | aHUS | ||
| MCP1 (AT) | Risk | C3GN and IC-MPGN | ||
| MCP2 (GC) | Risk | aHUS | ||
| MCP3 (GT) | Protective | C3GN and DDD | ||
| C3 | 304G (c.304C>G, p.R102G) | Risk | DDD | |
| 941T (c.941C>T, p.P314L) | Risk | DDD |
Note: Descriptions of SNPs first include a shorthand for referring to the variant, and in parentheses, its full description at the coding DNA (c) level and, if applicable, at the protein (p) level; example: 184G (c.184G>A, p.V62I) means a guanine to adenine substitution at the 184th nucleotide of the coding sequence, leading to a substitution of an isoleucine for a valine at amino acid 62. A minus sign indicates a position upstream of the translation start site, while an asterisk indicates a position downstream of the translation stop codon (ie, these upstream and downstream variants would both be in noncoding regions of the gene). The letters in parentheses after each haplotype (ie, a set of variants inherited together) give the identity of the nucleotide at each SNP listed for the gene in this table. For example, haplotype H3 (TGTGT) comprises a thymine at c.−332C>T, a guanine at c.184G>A, a thymine at c.1204T>C, a guanine at c.2016A>G, and a thymine at c.2808G>T. Data are from Abrera-Abeleda et al (J Am Soc Nephrol. 2011;22:1551-1559), Pickering et al (J Exp Med. 2007;204:1249-1256), and Servais et al (Kidney Int. 2012;82:454-464).
Abbreviations: aHUS, atypical hemolytic uremic syndrome; C3GN, C3 glomerulonephritis; CFH, complement factor H; CFHR, complement factor H–related; DDD, dense deposit disease; IC-MPGN, immune-complex–mediated membranoproliferative glomerulonephritis; MCP, membrane cofactor protein; SNP, single-nucleotide polymorphism.